Variant report

Variant	rs10981836
Chromosome Location	chr9:116349438-116349439
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116348874..116350912-chr9:116362853..116364416,2	MCF-7	breast:
2	chr9:116344266..116346925-chr9:116348617..116352466,4	K562	blood:
3	chr9:116035093..116036761-chr9:116347708..116350133,2	K562	blood:
4	chr9:116037188..116039708-chr9:116347471..116350102,2	K562	blood:
5	chr9:116340242..116342448-chr9:116347885..116349539,2	MCF-7	breast:
6	chr9:116345877..116347394-chr9:116349148..116351921,2	K562	blood:
7	chr9:116282242..116284285-chr9:116348888..116351501,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176386	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10739393	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4979253	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4979261	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10981836	ALAD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116337200-116349600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:116338200-116353600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:116340200-116355400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116341600-116355800	Weak transcription	Fetal Brain Female	brain
5	chr9:116341800-116353600	Weak transcription	A549	lung
6	chr9:116342000-116355400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:116342200-116349600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:116342200-116352200	Weak transcription	Fetal Kidney	kidney
9	chr9:116343200-116358800	Weak transcription	Hela-S3	cervix
10	chr9:116344600-116351000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:116344600-116351400	Strong transcription	Fetal Intestine Small	intestine
12	chr9:116344800-116351800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:116344800-116352400	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr9:116344800-116352600	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr9:116344800-116353800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:116344800-116355400	Weak transcription	Small Intestine	intestine
17	chr9:116345000-116350600	Genic enhancers	Monocytes-CD14+_RO01746	blood
18	chr9:116345200-116349800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:116345200-116349800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr9:116345200-116351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:116345400-116349800	Strong transcription	Colonic Mucosa	Colon
22	chr9:116345400-116350200	Strong transcription	Fetal Thymus	thymus
23	chr9:116345400-116350600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr9:116345600-116349800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr9:116345600-116350400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr9:116345600-116351000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr9:116345600-116351600	Genic enhancers	Lung	lung
28	chr9:116345600-116352200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr9:116345800-116350600	Genic enhancers	Pancreas	Pancrea
30	chr9:116346000-116350600	Genic enhancers	Spleen	Spleen
31	chr9:116346400-116350600	Strong transcription	GM12878-XiMat	blood
32	chr9:116346400-116351000	Genic enhancers	Gastric	stomach
33	chr9:116346400-116355200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:116346600-116356800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:116346800-116351400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:116346800-116351400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:116346800-116353800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:116346800-116355800	Weak transcription	Brain Germinal Matrix	brain
39	chr9:116346800-116356000	Weak transcription	Ovary	ovary
40	chr9:116347000-116349800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:116347000-116353400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:116347000-116353600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:116347200-116349800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:116347200-116351200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:116347200-116351800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr9:116347200-116355800	Weak transcription	HSMMtube	muscle
47	chr9:116347400-116351400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr9:116347400-116353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr9:116347600-116349600	Weak transcription	NH-A	brain
50	chr9:116347800-116352000	Weak transcription	NHLF	lung

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